Previous GeneCards Identifiers for ALDH2 Gene

Summaries for ALDH2 Gene

Entrez Gene Summary for ALDH2 Gene

This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2011]

Tocris Summary for ALDH2 Gene

Aldehyde dehydrogenase enzymes oxidize aldehydes to generate carboxylic acids for use in the muscle and heart. Numerous aldehyde dehydrogenase genes exist, of which ALDH2 is best known for its role in alcohol oxidation. Over 550 aldehyde genes have been identified across different species, which can be split into numerous families. There are 19 known human aldehyde dehydrogenase genes. ALDH2, a human mitochondrial enzyme belonging to family 2, is responsible for breaking down acetaldehyde produced by ethanol. Inhibition of aldehyde dehydrogenase therefore results in the build-up of acetaldehyde, a toxic metabolite which is thought to be responsible for 'hangover' symptoms.

Variants for ALDH2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH2 Gene

Genetic variation in ALDH2 is responsible for individual differences in responses to drinking alcohol [MIM:610251]. Allele ALDH2*2 is associated with a very high incidence of acute alcohol intoxication in Orientals and South American Indians, as compared to Caucasians